A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184776



Internal ID22338337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31605441..31605753hg38UCSC Ensembl
chr17:29932460..29932772hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3529n152
Supporting Variantsnssv14406718
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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